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Open Access 01-11-2013 | Meeting abstract

P03-002 - Different phenotypes associated with Q703K variant

Authors: A von Scheven-Gête, I Moix, G Simon, N Busso, M Morris, M Hofer

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

PFAPA syndrome is characterized by recurrent fever with aphtosis, pharyngitis and cervical adenitis. It is suspected to be an auto-inflammatory disease (AID). For some AID, a monogenic origin has been established in the past years. In PFAPA no clear aetiology has been found yet. However in some patients variants in the NLRP3 gene can be found. The variant Q703K was described so far in patients with CAPS as well as healthy carriers. …

Title: P03-002 - Different phenotypes associated with Q703K variant
Authors: A von Scheven-Gête
I Moix
G Simon
N Busso
M Morris
M Hofer
Publication date: 01-11-2013
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-11-S1-A197

Keynote webinar | Spotlight on medication adherence

Springer Medicine

P03-002 - Different phenotypes associated with Q703K variant

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

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